rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
19927125
2010
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
20298421
2010
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
BEFREE
The E211Q mutation has been identified in family members, but not in 97 sporadic CJD patients referred to the Italian registry of CJD nor in 205 healthy normal subjects, suggesting a pathogenic role for this mutation.
11568919
2001
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
BEFREE
Identification of three novel mutations (E196K, V203I, E211Q ) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
10790216
2000
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Identification of three novel mutations (E196K, V203I, E211Q ) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
10790216
2000
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
BEFREE
The goodness of this method is demonstrated in the analysis of three sporadic CJD patients with different genotypes at codon 129 and three inherited cases bearing different point mutations of PRNP: the Pro102Leu mutation linked to Gerstmann-Sträussler-Scheinker-syndrome, the Val210Ile mutation and a novel mutation at codon 211 (Gln211Glu ) both associated to familial CJD .
10936643
2000
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
8909447
1996
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
7906019
1994
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
7913755
1994
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
8461023
1993
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
7902693
1993
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
1439789
1992
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
1671440
1991
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
0.830
GeneticVariation
UNIPROT
Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
1975028
1990
rs398122370
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
Creutzfeldt-Jakob disease
C
0.830
CausalMutation
CLINVAR